HsaEX0049952 @ hg38
Exon Skipping
Gene
ENSG00000138738 | PRDM5
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120710309-120777281:-
Coord C1 exon
chr4:120777188-120777281
Coord A exon
chr4:120754553-120754638
Coord C2 exon
chr4:120710309-120710413
Length
86 bp
Sequences
Splice sites
3' ss Seq
GAGGCTTCCTTTATTTGTAGGTG
3' ss Score
7.79
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
ACACATACAGGAGAAAAGGAGAAAATCTGTCCATATTGTGGCCAGAAATTTGCCAGCAGTGGTACACTCAGAGTTCATATCCGGAGCCACACAG
Seq A exon
GTGAGCGTCCCTATCAATGTCCTTACTGTGAAAAAGGATTCAGTAAAAATGATGGACTGAAGATGCACATTCGTACTCACACCAGG
Seq C2 exon
GAGAAGCCGTACAAGTGCTCAGAGTGCAGCAAGGCCTTCAGCCAGAAGCGAGGCCTGGATGAGCACAAGAGGACGCACACTGGAGAAAAGCCTTTTCAGTGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_MULTIEX1-3/4=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.054 A=0.164 C2=0.256
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(69.2=56.2),PF134651=zf-H2C2_2=PU(38.5=31.2)
A:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)
C2:
PF134651=zf-H2C2_2=PD(53.8=40.0),PF134651=zf-H2C2_2=PU(68.0=48.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGGAGAAAAGGAGAAAATCTGTCC
R:
TTCTCCAGTGTGCGTCCTCTT
Band lengths:
175-261
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development